Results 11 to 20 of about 21,194 (199)

Unclassified COL6A1 Variant in a Child With Congenital Hypotonia: A Case Report

Clinical Case Reports
We report a 3‐year‐old male with congenital hypotonia, proximal contractures, and distal hyperlaxity. Exome sequencing identified a novel homozygous COL6A1 variant (c.2821C>T), classified as a variant of uncertain significance.
Khadeeja Nofal, Hamza M. A. Ghaith, Haneen Abdullatif Barghouthi, Mohammad Shahrori, Batool Darraj, Anwar Abu Hetta   +5 more
doaj   +2 more sources

Fukuyama Congenital Muscular Dystrophy. [PDF]

Cureus, 2022
Congenital muscular dystrophy (CMD) is a heterogeneous group of neurological disorders presenting at birth with weakness and hypotonia. Although the diagnosis is finally made through patterns of inheritance and muscle biopsy, the final imaging can be very characteristic in some of the variants, particularly the Fukuyama type of CMD (FCMD). We described
Agarwal A, Sabat S, Kanekar S.
europepmc   +4 more sources

Congenital Muscular Dystrophy

Annals of Indian Academy of Neurology, 2005
Khadilkar SV, Patil SG
doaj   +4 more sources

Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report

BMC Pediatrics, 2019
Background Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement.
Kondakova Olga Borisovna, Krasnenko Anna Yurievna, Tsukanov Kirill Yurievich, Klimchuk Olesya Igorevna, Korostin Dmitriy Olegovich, Davidova Anna Igorevna, Batysheva Tatyana Timofeevna, Zhurkova Natalia Vyacheslavovna, Surkova Ekaterina Ivanovna, Shatalov Peter Alekseevich, Ilinsky Valery Vladimirovich   +10 more
doaj   +1 more source

Case report of congenital kyphoscoliosis with myotonic dystrophy type 1: Perioperative and anesthetic considerations

Journal of Pediatric Neurosciences, 2021
Congenital kyphoscoliosis associated with myotonic dystrophy type 1 (DM 1) is a rare combination and carries challenges of surgical as well as anesthetic intervention.
Arpit Agrawal, Tanvi Dhawale, Varinder Kaur, Gouri Rao Passi   +3 more
doaj   +1 more source

Anesthesia for a child with Walker–Warburg syndrome

Brazilian Journal of Anesthesiology, 2014
Background and objectives: Walker–Warburg Syndrome is a rare, autosomal recessive congenital muscular dystrophy manifested by central nervous system, eye malformations and possible multisystem involvement.
Emine Arzu Kose, Bulent Bakar, Gokay Ates, Didem Aliefendioglu, Alpaslan Apan   +4 more
doaj   +1 more source

Melanocytes from patients affected by Ullrich congenital muscular dystrophy and Bethlem myopathy have dysfunctional mitochondria that can be rescued with cyclophilin inhibitors

Frontiers in Aging Neuroscience, 2014
Ullrich congenital muscular dystrophy and Bethlem myopathy are caused by mutations in collagen VI genes, which encode an extracellular matrix protein; yet mitochondria play a major role in disease pathogenesis through a short circuit caused by ...
Alessandra eZulian, Francesca eTagliavini, Francesca eTagliavini, Erika eRizzo, Erika eRizzo, Camilla ePellegrini, Francesca eSardone, Francesca eSardone, Nicoletta eZini, Nicoletta eZini, Nadir Mario Maraldi, Spartaco eSanti, Spartaco eSanti, Cesare eFaldini, Luciano eMerlini, Valeria ePetronilli, Valeria ePetronilli, Paolo eBernardi, Paolo eBernardi, Patrizia eSabatelli, Patrizia eSabatelli   +20 more
doaj   +1 more source

Genetic analysis of muscular dystrophies: our experience in Mexico

Folia Neuropathologica, 2021
Muscular dystrophies are a group of well-defined genetic disorders characterized by the variable distribution of muscle wasting and progressive weakness.
Rosa Elena Escobar-Cedillo, Luz López-Hernández, Antonio Miranda-Duarte, María Dolores Curiel-Leal, Andrea Suarez-Ocón, Laura Sánchez-Chapul, Alexandra Berenice Luna-Angulo, Guillermina Ávila-Ramírez, Julia Angélica López-Hernández, Benjamín Gómez-Díaz   +9 more
doaj   +1 more source

Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy [PDF]

Malaysian Orthopaedic Journal, 2011
Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy.
Gosal Gurinder S, Shah Hitesh H
doaj  

Diagnosis of Congenital Muscular Dystrophy

Pediatric Neurology Briefs, 1996
Patterns of alkaline and acid phosphatases were compared with the distribution of merosin and dystrophin staining in muscle biopsies from 20 children with congenital muscular dystrophy (CMD) examined at the Department of Neurology, Washington University ...
J Gordon Millichap
doaj   +1 more source